ClinVar Genomic variation as it relates to human health
GRCh37/hg19 5p13.2-11(chr5:34984696-46405042)x3
Germline
Classification
(1)
Pathogenic
criteria provided, single submitter
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
NIPBL | Sufficient evidence for dosage pathogenicity | Little evidence for dosage pathogenicity |
GRCh38 GRCh37 |
1747 | 1798 | |
FGF10 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
76 | 105 | |
AGXT2 | - | - |
GRCh38 GRCh37 |
42 | 69 | |
ANXA2R | - | - |
GRCh38 GRCh37 |
- | 39 | |
C5orf34 | - | - | - |
GRCh38 GRCh37 |
2 | 30 |
C6 | - | - |
GRCh38 GRCh37 |
463 | 485 | |
C7 | - | - |
GRCh38 GRCh37 |
528 | 551 | |
C9 | - | - |
GRCh38 GRCh37 |
312 | 337 | |
CAPSL | - | - |
GRCh38 GRCh37 |
19 | 44 | |
CARD6 | - | - |
GRCh38 GRCh37 |
64 | 85 |
There are 43 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Jan 17, 2019 | RCV001537930.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 09, 2023